Mutagenetix > Incidental Mutations

Incidental Mutation 'R5795:Zfp316'

447169

Institutional Source

Beutler Lab

Gene Symbol

Zfp316

Ensembl Gene

ENSMUSG00000046658

Gene Name

zinc finger protein 316

Synonyms

Emzf1

MMRRC Submission

043386-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143249697-143270022 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143262839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 217 (D217E)

Ref Sequence

ENSEMBL: ENSMUSP00000125416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051665] [ENSMUST00000161448]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000051665
AA Change: D217E

SMART Domains

Protein: ENSMUSP00000059418
Gene: ENSMUSG00000046658
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161448
AA Change: D217E

SMART Domains

Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	A	G	9: 104,309,489	V261A	probably benign	Het
Adipor1	C	A	1: 134,424,903	N137K	probably damaging	Het
Ahnak	A	T	19: 9,012,382	K3677*	probably null	Het
Ankrd24	C	A	10: 81,645,103		probably benign	Het
Appl1	G	T	14: 26,942,816	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,121,968	F249L	possibly damaging	Het
Brat1	G	T	5: 140,713,072	A275S	probably benign	Het
C5ar1	T	C	7: 16,248,394	K234E	possibly damaging	Het
Ccs	A	G	19: 4,833,339		probably null	Het
Chmp5	T	G	4: 40,950,562		probably null	Het
Chrna3	T	A	9: 55,015,268	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 141,041,807		probably null	Het
Csf3	G	T	11: 98,702,027	C72F	probably damaging	Het
Dbndd1	A	G	8: 123,509,880	I83T	probably damaging	Het
Ercc6	A	G	14: 32,526,352	K287E	probably damaging	Het
F5	C	T	1: 164,152,009	T16I	probably benign	Het
Gif	A	G	19: 11,760,376	T384A	probably damaging	Het
Gm14085	T	C	2: 122,517,994	M274T	possibly damaging	Het
Hephl1	C	T	9: 15,069,760	G792E	probably damaging	Het
Hmmr	T	A	11: 40,721,906	D158V	probably damaging	Het
Hsd11b1	A	G	1: 193,240,632	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Irf7	G	A	7: 141,265,116	P118L	probably damaging	Het
Lama1	A	G	17: 67,796,727	N1981S	probably benign	Het
Lrp4	A	G	2: 91,474,471	D224G	probably benign	Het
Mink1	T	C	11: 70,607,790	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,514,157	V412M	probably damaging	Het
Muc5b	G	A	7: 141,871,741	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,996,622	E34K	probably damaging	Het
Oaf	T	A	9: 43,223,944	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,114,761	G278D	probably damaging	Het
Olfr1448	A	G	19: 12,919,824	F162L	possibly damaging	Het
Olfr91	A	G	17: 37,093,769	L35P	probably damaging	Het
Paf1	T	G	7: 28,396,618	M250R	probably damaging	Het
Pcdh8	T	C	14: 79,770,980	T48A	possibly damaging	Het
Pdzph1	A	G	17: 58,885,867	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,677,011	S586P	probably damaging	Het
Polr3b	A	T	10: 84,628,252	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc31a2	T	C	4: 62,297,052	V112A	probably damaging	Het
Spire1	A	T	18: 67,495,195	S412T	probably benign	Het
Tanc1	A	G	2: 59,807,582	T876A	possibly damaging	Het
Tango6	T	A	8: 106,718,077	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,909,658	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,215,062	M125K	possibly damaging	Het
Traf5	T	C	1: 191,999,846	S345G	probably benign	Het
Ush2a	A	T	1: 188,443,397	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,030,110	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,030,282	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,228,736	C60S	probably benign	Het
Zfp456	A	T	13: 67,366,920	D222E	probably benign	Het

Other mutations in Zfp316

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Zfp316	APN	5	143254426	missense	probably benign	0.00
IGL01783:Zfp316	APN	5	143262876	missense	unknown
R0415:Zfp316	UTSW	5	143264491	missense	unknown
R0423:Zfp316	UTSW	5	143253238	missense	probably damaging	0.98
R1576:Zfp316	UTSW	5	143264094	missense	unknown
R1579:Zfp316	UTSW	5	143253562	missense	probably damaging	0.97
R1836:Zfp316	UTSW	5	143253423	missense	probably damaging	1.00
R2058:Zfp316	UTSW	5	143263406	missense	unknown
R4004:Zfp316	UTSW	5	143255119	missense	possibly damaging	0.86
R4198:Zfp316	UTSW	5	143254471	missense	probably benign	0.05
R4436:Zfp316	UTSW	5	143254048	missense	probably damaging	1.00
R4961:Zfp316	UTSW	5	143253414	missense	probably damaging	0.98
R5579:Zfp316	UTSW	5	143264491	missense	unknown
R5642:Zfp316	UTSW	5	143264091	missense	unknown
R5701:Zfp316	UTSW	5	143254377	missense	probably benign	0.08
R5861:Zfp316	UTSW	5	143263340	missense	unknown
R5965:Zfp316	UTSW	5	143264672	splice site	probably null
R6414:Zfp316	UTSW	5	143254884	missense	possibly damaging	0.71
R6547:Zfp316	UTSW	5	143254197	missense	probably damaging	1.00
R6922:Zfp316	UTSW	5	143253525	missense	probably damaging	0.98
R7002:Zfp316	UTSW	5	143263355	missense	unknown
R7361:Zfp316	UTSW	5	143254675	missense	probably benign	0.01
R7414:Zfp316	UTSW	5	143264652	missense	unknown
R7693:Zfp316	UTSW	5	143263412	missense	unknown
R8749:Zfp316	UTSW	5	143262810	missense	unknown
R9368:Zfp316	UTSW	5	143264291	critical splice donor site	probably null
R9471:Zfp316	UTSW	5	143255406	missense	unknown
X0022:Zfp316	UTSW	5	143255056	missense	probably damaging	0.99
Z1177:Zfp316	UTSW	5	143253558	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGAGGACTTGGGAGCTGAC -3'
(R):5'- GATCTCTAAGCATAGGTGGCGG -3'

Sequencing Primer
(F):5'- CTGACAGCAGGGACTAGCAC -3'
(R):5'- CTAAGCATAGGTGGCGGGAAGG -3'

Posted On

2016-12-15